View all transcript variants in gene USH2A

Information The variants shown are described using the transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
Legend  

Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+?/+? c.653T>A p.(Val218Glu) missense_variant,splice_region_variant - 4/21 probably_damaging(0.962) r.(?) deleterious(0) subst g.216538426A>T - 5.500 - USH2A_000028 rs397518026 - ; clinvar; 17405132;11311042;20052763;18281613 - - LOVD
+/+ c.820C>T p.(Arg274*) stop_gained - 5/21 - r.(?) - subst g.216500961G>A - 4.850 - USH2A_000027 rs397518036 - ; clinvar; 22004887 - - LOVD
?/? c.920_921insGCCA p.(Ser307Argfs*17) frameshift_variant - 6/21 - r.(?) - ins g.216498869_216498870insTGGC - - - USH2A_000026 - - ; - - - LOVD
?/? c.923_924insGCCA p.(His308Glnfs*16) - - - - r.(?) - ins g.216498866_216498867insTGGC - - - USH2A_000046 rs397518043 - ; 10729113;10909849;15025721;18641288;19683999;14970843;18273898;15241801;15325563;11311042 - - LOVD
+/+ c.949C>A p.(=) synonymous_variant - 6/21 - r.(=) - subst g.216498841G>T - 1.900 - USH2A_000045 rs111033272 - ; clinVar; Ensembl; 15325563;18273898;15015129;15043528;15241801 - - LOVD
+?/+? c.1036A>C p.(Asn346His) missense_variant - 6/21 probably_damaging(1) r.(?) deleterious(0) subst g.216498754T>G - 5.360 - USH2A_000044 rs369522997 - ; clinvar; 10909849;15025721;17405132;22681893;10729113;15241801 - - LOVD
+/+ c.1143+1G>A p.? splice_donor_variant - - - r.spl? - subst g.216498646C>T - 4.450 - USH2A_000043 rs397517974 - ; clinvar; - - - LOVD
+?/+? c.1227G>C p.(Trp409Cys) missense_variant - 7/21 probably_damaging(0.997) r.(?) deleterious(0) subst g.216497611C>G - 5.640 - USH2A_000062 rs397517979 - ; clinvar; - - - LOVD
+/+ c.1256G>T p.(Cys419Phe) missense_variant - 7/21 probably_damaging(1) r.(?) deleterious(0) subst g.216497582C>A - 5.420 - USH2A_000061 rs121912600 - ; clinVar; Ensembl; 10729113;15241801;15015129;15325563 - - LOVD
+/+ c.1606T>C p.(Cys536Arg) missense_variant - 9/21 probably_damaging(0.999) r.(?) deleterious(0) subst g.216495263A>G - 5.650 - USH2A_000060 rs111033273 - ; clinVar; Ensembl; 15043528;10909849 - - LOVD
+/+ c.1841-2A>G p.? splice_acceptor_variant - - - r.spl? - subst g.216462754T>C - 5.430 - USH2A_000021 rs397518003 - ; clinvar; 18641288;19683999;12525556;15823922;20497194;21487335;21738395;22004887 - - LOVD
+/+ c.2209C>T p.(Arg737*) stop_gained - 13/21 - r.(?) - subst g.216420527G>A - 3.590 - USH2A_000020 rs111033334 - ; clinVar; Ensembl; 17296898;18452394 - - LOVD
+/+ c.2276G>T p.(Cys759Phe) missense_variant - 13/21 probably_damaging(0.999) r.(?) deleterious(0) subst g.216420460C>A - 5.790 - USH2A_000019 rs80338902 - ; clinVar; Ensembl; 10909849;16098008;17085681;17405132;18641288;10775529;21151602;12525556;14970843;15325563;{PMID - - LOVD
+/+ c.2299del p.(Glu767Serfs*21) - - - - r.(?) - del g.216420437del - 2.370 - USH2A_000018 rs80338903 - ; clinVar; Ensembl; 12112664;14970843;20301515;10909849;11402400;10729113;15025721 - - LOVD
+/+ c.2898del p.(Thr967Leufs*44) - - - - r.(?) - del g.216405390del - -11.900 - USH2A_000017 rs397518008 - ; clinvar; 19683999;15325563;10729113;9624053 - - LOVD
+/+ c.3309C>A p.(Tyr1103*) stop_gained - 16/21 - r.(?) - subst g.216380622G>T - 1.800 - USH2A_000016 rs397518011 - ; clinvar; - - - LOVD
+/+ c.3435del p.(Val1147Serfs*6) - - - - r.(?) - del g.216373345del - -6.640 - USH2A_000040 rs397518012 - ; clinvar; - - - LOVD
+/+ c.3547_3548del p.(Ile1183Phefs*19) - - - - r.(?) - del g.216373232_216373233del - - - USH2A_000039 rs397518013 - ; clinvar; - - - LOVD
+/+ c.3558del p.(Cys1186Trpfs*51) - - - - r.(?) - del g.216373222del - -3.680 - USH2A_000038 rs397518014 - ; clinvar; 20613545 - - LOVD
?/? c.4133_4134insTC p.(Asn1379Profs*54) frameshift_variant - 19/21 - r.(?) - ins g.216370012_216370013insGA - - - USH2A_000037 - - ; - - - LOVD
?/? c.4134_4135insTC p.(Asn1379Serfs*54) - - - - r.(?) - ins g.216370011_216370012insGA - - - USH2A_000036 rs397518015 - ; - - - LOVD
+/+ c.4338_4339del p.(Cys1447Glnfs*29) - - - - r.(?) - del g.216363622_216363623del - - - USH2A_000035 rs111033367 - ; clinVar; Ensembl; 15325563;10729113;20613545;18665195;9624053 - - LOVD
Legend